ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)

gnomAD frequency: 0.00081  dbSNP: rs114030714
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951726 SCV001098154 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001558613 SCV001780602 uncertain significance not provided 2020-04-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
PreventionGenetics, part of Exact Sciences RCV003970727 SCV004785783 likely benign CPT1A-related condition 2022-03-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000951726 SCV001457993 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-24 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.